Craniocarpotarsal dystrophy

Introduction: Craniocarpotarsal dystrophy

Description of Craniocarpotarsal dystrophy

Craniocarpotarsal dystrophy (medical condition): A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.

See also:

Arthrogryposis, distal, type 2A:
  »Introduction: Arthrogryposis, distal, type 2A
  »Symptoms of Arthrogryposis, distal, type 2A

Craniocarpotarsal dystrophy: [MIM*193700] a syndrome characterized by specific facial features with sunken eyes, hypertelorism, long philtrum, small nose, and small mouth with pursing of lips as in whistling, and skeletal malformations with ulnar deviation of hands, camptodactyly, talipes equinovarus, and frontal bone defects; autosomal dominant inheritance. SYN: craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face syndrome.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

Craniocarpotarsal dystrophy: Related Topics

These medical condition or symptom topics may be relevant to medical information for Craniocarpotarsal dystrophy:

• Dystrophy

Craniocarpotarsal dystrophy: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Craniocarpotarsal dystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Craniocarpotarsal dystrophy, or a subtype of Craniocarpotarsal dystrophy, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Craniocarpotarsal dystrophy as a Disease

Craniocarpotarsal dystrophy: Another name for Arthrogryposis, distal, type 2A (or close medical condition association).
  »Introduction: Arthrogryposis, distal, type 2A
  »Symptoms of Arthrogryposis, distal, type 2A

Symptoms of Craniocarpotarsal dystrophy (Arthrogryposis, distal, type 2A)

Some of the symptoms of Craniocarpotarsal dystrophy incude:

• Clinodactyly of fifth finger
• Deep set eyes
• Downslanted fissures
• Epicanthic folds
• Long philtrum

See full list of 21 symptoms of Craniocarpotarsal dystrophy (Arthrogryposis, distal, type 2A)

Terms associated with Craniocarpotarsal dystrophy:

Terms Similar to Craniocarpotarsal dystrophy:

• FSS
• Whistling face-windmill vane hand syndrome
• Freeman-Sheldon syndrome

Source - NIH

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